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Volumn 30, Issue 1, 2002, Pages 27-28
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The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
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Author keywords
[No Author keywords available]
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Indexed keywords
FERROCHELATASE;
HEME;
ARTICLE;
AUTOSOMAL DOMINANT DISORDER;
CONTROLLED STUDY;
ENZYME ACTIVITY;
ERYTHROPOIETIC PROTOPORPHYRIA;
GENE EXPRESSION;
GENE FREQUENCY;
GENOTYPE;
HAPLOTYPE;
HEME SYNTHESIS;
HUMAN;
HUMAN CELL;
INTRON;
LYMPHOBLASTOID CELL;
PENETRANCE;
PHENOTYPE;
PRIORITY JOURNAL;
RNA SPLICING;
SEGREGATION ANALYSIS;
SINGLE NUCLEOTIDE POLYMORPHISM;
BASE SEQUENCE;
DNA, ANTISENSE;
FEMALE;
FERROCHELATASE;
FRANCE;
GENE EXPRESSION REGULATION, ENZYMOLOGIC;
GENE FREQUENCY;
GENES, DOMINANT;
GENOTYPE;
HAPLOTYPES;
HUMANS;
INTRONS;
MALE;
MOLECULAR SEQUENCE DATA;
PENETRANCE;
POINT MUTATION;
POLYMORPHISM, GENETIC;
PORPHYRIA, ERYTHROPOIETIC;
PROTOPORPHYRIA, ERYTHROPOIETIC;
RNA SPLICE SITES;
RNA, MESSENGER;
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EID: 0036337671
PISSN: 10614036
EISSN: None
Source Type: Journal
DOI: 10.1038/ng809 Document Type: Article |
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Times cited : (233)
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References (10)
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